Associated Papers
Role of RNA Alternative Splicing in T Cell Function and Disease.
Banerjee S et al.
Genes, 2023
37895245 (PubMed )
Supplement: genes-14-01896-s001.zip › Supplementary_Table.xlsx › Supplementary_Table
Analysis of clinically relevant variants from ancestrally diverse Asian genomes.
Chan SH et al.
Nature Communications, 2022
36335097 (PubMed )
Supplement: 41467_2022_34116_MOESM4_ESM.zip › NCOMMS-22-14716A_SupplementaryData › NCOMM-22-14716A_SupplementaryData_2.xlsx › SuppData_2
Spectrum of germline AIRE mutations causing APS-1 and familial hypoparathyroidism.
Cranston T et al.
European Journal of Endocrinology, 2022
Late-onset autoimmune polyendocrine syndrome type 1: a case report and literature review.
Zhan F et al.
Immunologic Research, 2021
Cytokine Autoantibody Screening in the Swedish Addison Registry Identifies Patients With Undiagnosed APS1.
Eriksson D et al.
The Journal of Clinical Endocrinology and Metabolism, 2018
A functional alternative splicing mutation in AIRE gene causes autoimmune polyendocrine syndrome type 1.
Zhang J et al.
Plos One, 2013
Novel sequence variation of AIRE and detection of interferon-omega antibodies in early infancy.
Tóth B et al.
Clinical Endocrinology, 2010
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) in the Irish population.
Dominguez M et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2006
APECED mutations in the autoimmune regulator (AIRE) gene.
Heino M et al.
Human Mutation, 2001
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